Zhong Jiafei,Gu Shuo.Recent advances in perinatal management of neural tube defects[J].Journal of Clinical Pediatric Surgery,2020,19(06):548-553.[doi:10.3969/j.issn.1671-6353.2020.06.017]
神经管畸形围生期处理新进展
- Title:
- Recent advances in perinatal management of neural tube defects
- Keywords:
- Neural Tube Defects; Perinatal Period
- 分类号:
- R739.4
- 摘要:
- 随着影像学等技术的进步,神经管畸形围生期处理方法在过去的30年经历了飞跃式发展。过去,神经管畸形在出生时才能被发现或者因表现不明显而被漏诊,病死率高且预后极差;现在,产前诊断及针对性处理手段的进步使得围生期处理神经管畸形理念进一步更新,包括主动预防、加强孕期产检及咨询、分娩方式及时机的选择、针对性处理计划等,极大地提高了神经管畸形患儿生存率及生活质量。本文通过查阅、分析、总结最新文献,对神经管畸形围生期处理最新进展作一综述。
- Abstract:
- With a rapid progress of imaging and other techniques,perinatal management of neural tube defects (NTDs) has undergone a quantum leap over the last three decades.Previously NTDs were only discovered at birth or underdiagnosed so that there were a high mortality and a poor prognosis.Current advances in prenatal diagnosis and targeted management have led to a renewal of perinatal management including active preventions,intensive prenatal examinations and consultations,selections of delivery mode and timing and targeted treatment plans,etc.,greatly improved patient survival rate and quality-of-life.This review has summarized the latest literature reports.Perinatal managements and recent advances of NTDs are thoroughly reviewed.
参考文献/References:
1 Martinez H,Weakland AP,Bailey LB,et al.Improving maternal folate status to prevent infant neural tube defects:working group conclusions and a framework for action[J].Ann N Y Acad Sci,2018,1414(1):5-19.DOI:10.1111/nyas.13593.
2 Blount JP,George TM,Koueik J,et al.Concepts in the neurosurgical care of patients with spinal neural tube defects:An embryologic approach[J].Birth Defects Res,2019,111(19):1564-1576.DOI:10.1002/bdr2.1588.
3 Blencowe H,Kancherla V,Moorthie S,et al.Estimates of global and regional prevalence of neural tube defects for 2015:a systematic analysis[J].Ann N Y Acad Sci,2018,1414(1):31-46.DOI:10.1111/nyas.13548.
4 顾硕.先天性脊柱裂常见类型及治疗策略思考[J].临床小儿外科杂志,2019,18(2):88-90.DOI:10.3969/j.issn.1671-6353.2019.02.003.Gu S.Common types and treatment strategies for congenital spinal bifida[J].J Clin Ped Sur,2019,18(2):88-90.DOI:10.3969/j.issn.1671-6353.2019.02.003.
5 Chen G,Pei LJ,Huang J,et al.Unusual patterns of neural tube defects in a high risk region of northern China[J].Biomed Environ Sci,2009,22(4):340-344.DOI:10.1016/S0895-3988(09)60065-9.
6 Avagliano L,Massa V,George TM,et al.Overview on neural tube defects:From development to physical characteristics[J].Birth Defects Res,2019,111(19):1455-1467.DOI:10.1002/bdr2.1380.
7 Yorifuji T.Long-term Trends in Prevalence of Neural Tube Defects in Japan[J].J Epidemiol,2019,29(4):123-124.DOI:10.2188/jea.JE20180126.
8 van GJ,Hirche H,Lax H,et al.Folic acid and primary prevention of neural tube defects:A review[J].Reprod Toxicol,2018,80:73-84.DOI:10.1016/j.reprotox.2018.05.004.
9 Wilson RD,SOGC Genetics Committee,Special Contributor,et al.Prenatal screening,diagnosis,and pregnancy management of fetal neural tube defects[J].J Obstet Gynaecol Can,2014,36(10):927-939.DOI:10.1016/S1701-2163(15)30444-8.
10 Tonni G,Grisolia G,Santana EF,et al.Assessment of fetus during second trimester ultrasonography using HDlive software:What is its real application in the obstetrics clinical practice?[J].World J Radiol,2016,8(12):922-927.DOI:10.4329/wjr.v8.i12.922.
11 Bahlmann F,Reinhard I,Schramm T,et al.Cranial and cerebral signs in the diagnosis of spina bifida between 18 and 22 weeks of gestation:a German multicentre study[J].Prenat Diagn,2015,35(3):228-235.DOI:10.1002/pd.4524.
12 Suresh S,Sudarshan S,Rangaraj A,et al.Spina bifida scr-eening in the first trimester using ultrasound biparietal diameter measurement adjusted for crown-rump length or abdominal circumference[J].Prenat Diagn,2019,39(4):314-318.DOI:10.1002/pd.5433.
13 Zugazaga CA,Martín MC,Duran FC,et al.Magnetic resonance imaging in the prenatal diagnosis of neural tube defects[J].Insights Imaging,2013,4(2):225-237.DOI:10.1007/s13244-013-0223-2.
14 Krantz DA,Hallahan TW,Carmichael JB,et al.Screening for open neural tube defects[J].Clin Lab Med,2016,36(2):401-406.DOI:10.1016/j.cll.2016.01.004.
15 Roman AS,Gupta S,Fox NS,et al.Is MSAFP still a useful test for detecting open neural tube defects and ventral wall defects in the era of first-trimester and early second-trimester fetal anatomical ultrasounds?[J].Fetal Diagn Ther,2015,37(3):206-210.DOI:10.1159/000363654.
16 Masini L,De Luca C,Noia G,et al.Prenatal diagnosis,natural history,postnatal treatment and outcome of 222 cases of spina bifida:experience of a tertiary center[J].Ultrasound Obstet Gynecol,2019,53(3):302-308.DOI:10.1002/uog.20136.
17 Melekoglu R,Eraslan S,Celik E,et al.Perinatal and neonatal outcomes of patients who were diagnosed with neural tube defect in midtrimester fetal ultrasound scan and refused request for termination of pregnancy[J].Biomed Res Int,2016,2016:6382825.DOI:10.1155/2016/6382825.
18 Król M,Sibiński M,Stefański M,et al.Assessment of life quality in children with spina bifida[J].Chir Narzadow Ruchu Ortop Pol,2011,76(1):52-55.
19 Barf HA,Post MW,Verhoef M,et al.Life satisfaction of young adults with spina bifida[J].Dev Med Child Neurol,2007,49(6):458-463.DOI:10.1111/j.1469-8749.2007.00458.x.
20 Bowman RM,McLone DG,Grant JA,et al.Spina bifida outcome:a 25-year prospective[J].Pediatr Neurosurg,2001,34(3):114-120.DOI:10.1159/000056005.
21 Rehman L,Shiekh M,Afzal A,et al.Risk factors,presentation and outcome of meningomyelocele repair[J].Pak J Med Sci,2020,36(3):422-425.DOI:10.12669/pjms.36.3.1237.
22 Tolcher MC,Shazly SA,Shamshirsaz AA,et al.Neurological outcomes by mode of delivery for fetuses with open neural tube defects:a systematic review and meta-analysis[J].BJOG,2019,126(3):322-327.DOI:10.1111/1471-0528.15342.
23 Yorifuji T.Long-term trends in prevalence of neural tube defects in Japan[J].J Epidemiol,2019,29(4):123-124.DOI:10.2188/jea.JE20180126.
24 Sivarajah K,Relph S,Sabaratnam R,et al.Spina bifida in pregnancy:A review of the evidence for preconception,antenatal,intrapartum and postpartum care[J].Obstet Med,2019,12(1):14-21.DOI:10.1177/1753495X18769221.
25 Merrill DC,Goodwin P,Burson JM,et al.The optimal route of delivery for fetal meningomyelocele[J].Am J Obstet Gynecol,1998,179(1):235-40.DOI:10.1016/s0002-9378(98)70278-9.
26 Luthy DA,Wardinsky T,Shurtleff DB,et al.Cesarean section before the onset of labor and subsequent motor function in infants with meningomyelocele diagnosed antenatally[J].N Engl J Med,1991,324(10):662-666.DOI:10.1056/NEJM199103073241004.
27 Adzick NS,Thom EA,Spong CY,et al.A randomized trial of prenatal versus postnatal repair of myelomeningocele[J].N Engl J Med,2011,364(11):993-1004.DOI:10.1056/NEJMoa1014379.
28 Committee on Obstetric Practice,Society for Maternal-Fetal Medicine.Committee Opinion No.720:Maternal-Fetal Surgery for Myelomeningocele[J].Obstet Gynecol,2017,130(3):e164-e167.DOI:10.1097/AOG.0000000000002303.
29 Tuite GF,Thompson DNP,Austin PF,et al.Evaluation and management of tethered cord syndrome in occult spinal dysraphism:Recommendations from the international children’s continence society[J].Neurourol Urodyn,2018,37(3):890-903.DOI:10.1002/nau.23382.
30 Blencowe H,Kancherla V,Moorthie S,et al.Estimates of global and regional prevalence of neural tube defects for 2015:a systematic analysis[J].Ann N Y Acad Sci,2018,1414(1):31-46.DOI:10.1111/nyas.13548.
相似文献/References:
[1]鲍 南 吴水华 杨 波 顾 硕 褚 君 胡 明 施诚仁.儿童终丝牵拉综合征60例诊治分析[J].临床小儿外科杂志,2010,9(04):0.
BAO Nan,WU Shui-hua,YANG Bo,et al.Diagnosis and treatment of tight filum terminale syndrome in children.[J].Journal of Clinical Pediatric Surgery,2010,9(06):0.
[2]张艳芬 解丽娟 马 骁 张庆江 蔡春泉.儿童脊髓栓系综合征肌电图研究[J].临床小儿外科杂志,2010,9(04):0.
ZHANG Yan-fen,JIE Li-juan,MA Jiao,et al.Children with tethered cord syndrome EMG.[J].Journal of Clinical Pediatric Surgery,2010,9(06):0.
[3]王贤书 张晓茹 曹红宾. 婴儿脊神经管畸形并脊髓栓系手术方案及预后关系的探讨[J].临床小儿外科杂志,2015,14(03):173.
[4]王贤书 张晓茹 曹红宾. 900例小儿脂肪瘤型脊髓栓系综合征手术与疗效分析[J].临床小儿外科杂志,2015,14(04):266.
[5]张瑞苹,方玉莲,NirjaLakhey,等.甲硫氨酸合酶还原酶基因A66G多态性与神经管缺陷关系的Meta分析[J].临床小儿外科杂志,2017,16(04):347.
[6]林锦荣,许新科,李方成..圆锥位置正常型小儿脊髓栓系综合征的诊治分析[J].临床小儿外科杂志,2019,18(02):103.
Lin JR,Xu XK,Li FC..Diagnosis and treatment of pediatric tethered cord syndrome with normal positioned conus medullaris.[J].Journal of Clinical Pediatric Surgery,2019,18(06):103.
[7]陈朝晖,吴水华.超声吸引装置在脂肪瘤型脊髓拴系综合征中的应用研究[J].临床小儿外科杂志,2020,19(02):135.[doi:10.3969/j.issn.1671-6353.2020.02.009]
Chen Chaohui,Wu Shuihua.Application of Cavitron ultrasonic surgical aspirator in the management of tethered cord syndrome with lipoma[J].Journal of Clinical Pediatric Surgery,2020,19(06):135.[doi:10.3969/j.issn.1671-6353.2020.02.009]
[8]呼和,蒋飞,姬广春,等.光修复对脊髓栓系伴神经源性膀胱大鼠的作用研究[J].临床小儿外科杂志,2020,19(07):648.[doi:10.3969/j.issn.1671-6353.2020.07.017]
Hu He,Jiang Fei,Ji Guangchun,et al.Effect of light repair on spinal cord tether with neurogenic bladder in rats[J].Journal of Clinical Pediatric Surgery,2020,19(06):648.[doi:10.3969/j.issn.1671-6353.2020.07.017]
[9]文海韬,伍添,陈朝晖,等.经小切口单侧椎间隙入路手术治疗圆锥位置正常与圆锥低位儿童终丝型脊髓拴系综合征的疗效对比[J].临床小儿外科杂志,2022,21(07):663.[doi:10.3760/cma.j.cn101785-202105001-013]
Wen Haitao,Wu Tian,Chen Chaohui,et al.Efficacy comparison of unilateral intervertebral approach through small incision for the treatment of filamentous tether syndrome in children with normal conus position versus low conus position[J].Journal of Clinical Pediatric Surgery,2022,21(06):663.[doi:10.3760/cma.j.cn101785-202105001-013]
备注/Memo
收稿日期:2020-02-10。
基金项目:国家重点研发计划(编号:2018YFC1002400);国家重点研发计划(编号:2018YFC1002401)
通讯作者:顾硕,Email:gushuo007@163.com